Canonical Allele Identifier: CA736191778

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2818364
• ClinVar RCV Id: RCV003601642
• dbSNP Id: rs1383465849
• MyVariant Identifiers: chr1:g.45974651_45974652insA (hg19) ; chr1:g.45508979_45508980insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508980dup , CM000663.2:g.45508980dup	GRCh38
NC_000001.10:g.45974652dup , CM000663.1:g.45974652dup	GRCh37
NC_000001.9:g.45747239dup	NCBI36
NG_013378.1:g.13797dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.614dup MANE Select	ENSP00000383840.4:p.Tyr205Ter
ENST00000401061.8:c.614dup	ENSP00000383840.4:p.Tyr205Ter
ENST00000616135.1:c.443dup	ENSP00000478859.1:p.Tyr148Ter
NM_015506.2:c.614dup	NP_056321.2:p.Tyr205Ter
XM_005270724.3:c.419dup	XP_005270781.1:p.Tyr140Ter
XM_011541204.1:c.443dup	XP_011539506.1:p.Tyr148Ter
NM_001330540.1:c.443dup	NP_001317469.1:p.Tyr148Ter
XM_005270724.5:c.419dup	XP_005270781.1:p.Tyr140Ter
NM_015506.3:c.614dup MANE Select	NP_056321.2:p.Tyr205Ter
NM_001330540.2:c.443dup	NP_001317469.1:p.Tyr148Ter